Associated Papers
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.
Deng Q et al.
Gene, 2023
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K et al.
Scientific Reports, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Lawal TA et al.
Journal of Neuromuscular Diseases, 2021
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA et al.
Orphanet Journal of Rare Diseases, 2020
Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function.
Graham B et al.
Frontiers in Genetics, 2020
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Sadhasivam S et al.
Pharmacogenomics, 2019
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ et al.
Journal of Neurology, 2018
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
Riazi S et al.
Anesthesiology, 2018
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.
Brackmann F et al.
Neuromuscular Disorders : Nmd, 2018
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
Chen W et al.
The Biochemical Journal, 2017
Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations.
Nicoll Baines K et al.
G3 (bethesda, Md.), 2017
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
Murayama T et al.
Human Mutation, 2016
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.
Bamaga AK et al.
Neuromuscular Disorders : Nmd, 2016
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW et al.
Anesthesia and Analgesia, 2013
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility.
Taylor A et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012
Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.
Lefebvre R et al.
The Journal of Physiology, 2011
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
Kraeva N et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2011
Genetic variation in RYR1 and malignant hyperthermia phenotypes.
Carpenter D et al.
British Journal of Anaesthesia, 2009
150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2008
Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR.
Yang T et al.
American Journal of Physiology. Cell Physiology, 2007
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Galli L et al.
Human Mutation, 2006